Cases reported "Coloboma"

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1/10. Colobomatous microphthalmia and orbital neuroglial cyst: case report.

    We present the case of a boy with a congenital right orbital cyst with bilateral colobomatous microphthalmia. neuroimaging studies excluded communication between the cyst and the eye and between the cyst and the central nervous system. Analysis of cyst fluid obtained by aspiration detected beta 2-transferrin by high resolution immunofixation (IFE). The cyst recurred two months following aspiration. It was then completely excised and histopathologic studies demonstrated a cyst containing neuroglial tissue. No recurrence was observed for 12 months following excision.
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2/10. charge syndrome from birth to adulthood: an individual reported on from 0 to 33 years.

    charge syndrome was independently reported by Hall [(1979): J Pediatr 95:395-398] and Hittner et al. [(1979): J Pediatr Ophthalmol strabismus 16:122-128] and was initially considered to be a non-random association between distinct multiple congenital anomalies. It is now considered to be a recognizable syndrome with well-characterized diagnostic criteria and a genetic pathogenesis. We report on a 33-year-old adult male with charge syndrome, with emphasis on the unique medical, behavioral, and psychological issues faced in adulthood. Characteristic facial and ear abnormalities were obvious in early childhood, and bilateral retinal colobomata, left choanal atresia, right congenital hip dislocation, and hypogonadism were diagnosed during the first year. walking was delayed due to vestibular problems, speech was impaired due to moderately severe hearing loss, and use of sign communication was limited. choanal atresia was surgically corrected in infancy, and atrial septal defect, ventricular septal defect, and patent ductus arteriosus were surgically corrected in childhood. Undescended testes were removed in adolescence, and gallstones were removed in early adulthood. puberty was delayed until hormone replacement therapy began at 15 years. Behavioral disturbances and anxiety persisted throughout childhood, adolescence, and into adulthood, often resulting from communication challenges. At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density.
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3/10. Behavioral features of charge syndrome: parents' perspectives of three children with charge syndrome.

    As the population first diagnosed with charge syndrome has aged, information has emerged about specific behavioral features of this syndrome. Once the medical features are managed, it is the behavioral features that interfere with our children's ability to form reciprocal relationships, to gain formal communication skills, to make the educational gains they are cognitively capable of, and to ultimately care for themselves. In telling the informal case studies of our children, we hope their behavioral commonalities, in spite of their medical and educational differences, will be apparent as well as the complexity of the multiple types of behavior observed. We remain hopeful that answers can be found that will help our children and our families cope with this very debilitating feature of CHARGE.
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4/10. optic nerve coloboma with cyst: a case report and review.

    A 7-month-old boy presented with strabismus and proptosis of the left eye. He was found to have bilateral optic nerve colobomas associated with cysts arising from the optic nerve sheath and in communication with the subarachnoid space. The evaluation and management of this entity are discussed.
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5/10. Bilateral optic disc colobomas with orbital cysts and hypoplastic optic nerves and chiasm.

    A 3-month-old boy with bilateral optic disc colobomas and orbital cysts is presented. Both eyes appeared relatively normal in size. ultrasonography on one side demonstrated a communication between the globe and cyst by way of the optic disc coloboma. On computed tomography and magnetic resonance imaging, the cysts' contents were similar to vitreous. The optic nerves and chiasm appeared markedly hypoplastic on neuroimaging tests. fluorescein angiography, electroretinography, and visual evoked responses suggested that the visual deficit primarily was ascribable to optic nerve or anterior visual pathway dysfunction.
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6/10. retinal detachment in the morning glory anomaly.

    The morning glory anomaly is a rare congenital clinical entity that results from abnormal optic nerve development. In our series of 30 patients, followed for a mean duration of 10.3 years, 11 developed associated retinal detachments. These detachments followed a variable clinical course, including spontaneous reattachment and even redetachment, and may result from an abnormal communication between the subarachnoid space of the optic nerve and the subretinal space, allowing cerebrospinal fluid to accumulate subretinally. The clinical findings (including ultrasonography, computed tomography, and electrophysiologic testing), natural history, complications, and therapeutic indications are discussed.
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7/10. Treatment of combined traction-rhegmatogenous retinal detachment in the morning glory syndrome.

    A 14-year-old boy had a near total retinal detachment associated with the morning glory optic disc anomaly. A tiny slit-like retinal break with adjacent vitreous traction was found within the coloboma, providing communication between the vitreous cavity and the subretinal space. vitrectomy, fluid-gas exchange, and postoperative confluent krypton laser photocoagulation around the optic disc resulted in a successful reattachment of the retina. The retina has remained attached for 14 months.
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8/10. Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma.

    This communication describes a 7-year-old male with growth and psychomotor retardation and dysmorphic features who has a small terminal deletion of the long arm of chromosome 7. The proband, in addition, had bilateral coloboma of the retina and choroidea which was not reported previously in patients with this rare chromosomal deletion syndrome. Our finding and available data in the literature on the association of the coloboma of the eyes with various chromosomal abnormalities points out the importance of karyotype studies in such patients, especially in the presence of concomitant extraocular findings.
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9/10. glaucoma and findings simulating glaucoma in the rubinstein-taybi syndrome.

    Information is reviewed on the ophthalmologic findings in 614 individuals with rubinstein-taybi syndrome (RTS). The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from personal observations. Particular emphasis is given in this article to the association of RTS with glaucoma and five other findings that may be confused with glaucoma (corneal lesions, megalocornea, colobomatous or cystic optic nerve, excavation of papilla, and large cup-to-disc ratio). A case report is presented including autopsy results on a 5-year-old black female with RTS, corneal lesions, colobomas of the optic nerves, and normal intraocular pressure.
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10/10. Pathogenesis of retinal detachment associated with morning glory disc.

    Pars plana vitrectomy was performed on a six-year-old boy with complete retinal detachment associated with a morning glory disc of his left eye. Perfluorodecalin was injected to unfold the retina. During surgery, perfluorodecalin leaked repeatedly under the retina. This case demonstrates that a retinal hole in tissues lying within the optic disc anomaly provides a communication for fluid and perfluorodecalin between the subretinal space and vitreous cavity resulting in a rhegmatogenous retinal detachment in the morning glory syndrome.
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